Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2070741
rs2070741
GC
1 1.000 0.040 4 71741961 intron variant T/G snv 7.4E-02 0.010 1.000 1 2011 2011
dbSNP: rs35705950
rs35705950
14 0.763 0.240 11 1219991 splice region variant G/A;T snv 0.010 1.000 1 2020 2020
dbSNP: rs6647
rs6647
2 0.925 0.040 14 94381078 missense variant A/G snv 0.21 0.31 0.010 1.000 1 2010 2010
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs730882242
rs730882242
7 0.807 0.280 5 141573518 stop gained G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs773717255
rs773717255
2 0.925 0.040 5 148827469 missense variant T/C snv 3.2E-05 7.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs78655421
rs78655421
18 0.716 0.240 7 117530975 missense variant G/A;C;T snv 1.5E-03; 1.2E-05 0.010 1.000 1 2019 2019
dbSNP: rs113993959
rs113993959
25 0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04 0.700 0
dbSNP: rs587777630
rs587777630
16 0.716 0.440 2 190986921 missense variant G/A snv 0.700 0
dbSNP: rs74597325
rs74597325
18 0.708 0.320 7 117587811 stop gained C/G;T snv 6.8E-05 0.700 0
dbSNP: rs759191907
rs759191907
25 0.776 0.360 9 127825225 splice region variant A/G snv 8.0E-06 0.700 0
dbSNP: rs770861172
rs770861172
6 0.827 0.160 2 195857582 missense variant C/T snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs777516785
rs777516785
5 0.882 0.120 X 47242504 synonymous variant G/A snv 1.1E-05 0.700 0
dbSNP: rs1057516212
rs1057516212
3 0.925 0.160 14 94382947 frameshift variant AGTG/- delins 0.700 0
dbSNP: rs1569162748
rs1569162748
7 0.925 0.120 X 13767142 frameshift variant AAATT/- del 0.700 0